Gene entry
CHAT
choline O-acetyltransferase
- Chromosome
- 10
- Cytoband
- 10q11.23
- Variants (rsID)
- 52
CHAT is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 10 (region 10q11.23). Its official name is “choline O-acetyltransferase”. The reference table lists 52 variants (rsID) for this gene.
Clinically classified variants
16 reference-table entries with clinical significance.
- rs11101192Benignsingle nucleotide variant
- rs115212829Benignsingle nucleotide variantFamilial infantile myasthenia
- rs1880676Benignsingle nucleotide variantFamilial infantile myasthenia
- rs3793801Benignsingle nucleotide variantFamilial infantile myasthenia
- rs3810950Benignsingle nucleotide variantFamilial infantile myasthenia
- rs76014951Benignsingle nucleotide variantFamilial infantile myasthenia
- rs8178990Benignsingle nucleotide variantFamilial infantile myasthenia
- rs8178991Benignsingle nucleotide variantFamilial infantile myasthenia
- rs8178992Benignsingle nucleotide variantFamilial infantile myasthenia
- rs114545628Conflicting interpretationssingle nucleotide variantFamilial infantile myasthenia
- rs201479289Conflicting interpretationssingle nucleotide variantCongenital myasthenic syndrome|Familial infantile myasthenia
- rs141127966Likely benignsingle nucleotide variantFamilial infantile myasthenia
- rs121912823Likely pathogenicsingle nucleotide variantFamilial infantile myasthenia|Abnormality of the musculature
- rs121912820Pathogenicsingle nucleotide variantFamilial infantile myasthenia
- rs121912821Pathogenicsingle nucleotide variantFamilial infantile myasthenia
- rs121912819Uncertain significancesingle nucleotide variantFamilial infantile myasthenia
Other listed variants
- rs733722
- rs1917814
- rs1917818
- rs2177369
- rs2177370
- rs2889760
- rs3729496
- rs3793790
- rs3793791
- rs3793792
- rs3793797
- rs3793798
- rs3793800
- rs3810946
- rs3810947
- rs4838391
- rs4838392
- rs4838541
- rs4838543
- rs4838547
- rs7076926
- rs7094421
- rs8178986
- rs10776586
- rs11101187
- rs11101190
- rs11101191
- rs11101193
- rs12246528
- rs12264845
- rs12266458
- rs17784350
- rs72795714
- rs72795726
- rs115136176
- rs190968891
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.